Key result
Cardiac Prdm16 knockout in mice prolongs QRS and QTc intervals and induces cardiomyopathy features.
Why the study?
Although PRDM16 variants have been linked to QRS duration and dilated cardiomyopathy in 1p36 deletion syndrome, the effect of a null mutation on cardiac function and its underlying mechanisms remained unclear.
Does cardiac-specific Prdm16 knockout cause cardiac conduction abnormalities and cardiomyopathy-associated phenotypes in mice?
Population
Cardiac-specific Prdm16 conditional knockout and wild-type mice
Comparison
Cardiac-specific Prdm16 knockout mice vs wild-type mice
Design
Preclinical animal model study
Authors
Loading...
Mouse Prdm16 loss phenotypes warrant no clinical translation; leaves open validation of this GWAS candidate in human conduction disease and cardiomyopathy.
Does cardiac-specific Prdm16 knockout cause cardiac conduction abnormalities and cardiomyopathy-associated phenotypes in mice?
Cardiac-specific inactivation of Prdm16 in mice replicates human GWAS findings by causing prolonged QRS duration, QTc interval, and cardiomyopathy phenotypes, potentially via dysregulated ion channel expression.
Nam et al. (2020) studied Cardiac conduction abnormalities and cardiomyopathy. Cardiac-specific Prdm16 knockout vs. Wild-type mice was evaluated on Cardiac function (QRS duration and QTc interval) and cardiomyopathy-associated features. Cardiac-specific Prdm16 knockout in mice significantly increased QRS duration and QTc interval, and induced cardiomyopathy-associated phenotypes including fibrosis and cellular hypertrophy.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: